A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3045626



Internal ID21177672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183017820..183017820hg38UCSC Ensembl
chr3:182735608..182735608hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14027569
SamplesNA12878
Known GenesMCCC1
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3045626
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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